Delayed Presentation of Respiratory Symptoms and Prolonged Survival in Homozygous a3 Integrin Deficiency

ABSTRACT

Interstitial lung disease with nephrotic syndrome and junctionalepidermolysis bullosa is caused by biallelic mutations in theintegrin gene ITGA3 and is associated with death in infancy. Wedescribe a variant of this syndrome with delayed presentation ofsymptoms and prolonged survival.